Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 565-568, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-879627
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child featuring global developmental delay.@*METHODS@#DNA was extracted from peripheral blood sample taken from the patient and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.@*RESULTS@#A heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene was detected in the proband, which was a verified to be de novo in origin.@*CONCLUSION@#The heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene probably underlay the disease in this child.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Artrogriposis
/
Familia
/
Subunidades beta de la Proteína de Unión al GTP
/
Secuenciación del Exoma
/
Heterocigoto
/
Discapacidad Intelectual
Tipo de estudio:
Estudio diagnóstico
Límite:
Niño
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS